Progeria

"Progeria" isn’t just one disease, but a group of rare, fatal genetic conditions that give children the appearance of aging prematurely (the name, which comes from the Greek, means "prematurely old”). The classic type of progeria, which we’ll focus on in these pages, is Hutchinson-Gilford Progeria Syndrome (HGPS), named for the two doctors who first described it in England in the late 1800s.

Although children with progeria (pronounced “pro-JEER-ee-a”) are born looking healthy, they begin to show many features of premature aging at around 18 to 24 months of age. They have a physical appearance that is very similar from child to child, even when they come from different ethnic backgrounds.

Children with progeria have normal intelligence, and think and act just like other children their age. They can generally attend school, participate in sports and play with other children.

As children with progeria get older, they start to get osteoporosis and atherosclerosis (hardening of the arteries), and may suffer heart attacks and strokes at as young as5 years old. They die, usually from heart disease, at an average age of 13.

Specific features of HGPS include:

• progressive heart disease
• severe failure to thrive, with poor, very slow weight gain over time
• loss of body fat and hair
• aged-looking skin
• hearing loss
• stiff, painful joints, especially in the hips and feet, limiting range of motion
• hip dislocation
• bone rigidity and loss of bone mineral density
• dry eyes, sometimes leading to irritation and clouding
• dental and gum disease
• hair loss.

There are other "premature aging" syndromes besides HGPS. They include:

• Cockayne syndrome, characterized by microcephaly (small heads), sensitivity to sunlight, developmental and neurological delays and a shortened lifespan(from 10 to 50 years of age, depending on the type of Cockayne syndrome)

• Werner syndrome, also known as "adult progeria," which begins to appear during the teen years, includes hair loss, thin, hardened skin, abnormal distribution of body fat, cataracts, diabetes, atherosclerosis, osteoporosis, cancer and a lifespan into the 40s and 50s.

Though there is no cure for progeria, research at Boston Children’s Hospital has found some improvements in quality of life with drug treatment (for more, click the Research & Innovation tab).

(Adapted from information compiled by the Progeria Research Foundation.)